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Variant : CV383733 (GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3) Homo sapiens

Symbol: CV383733
Name: GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3
Condition: See cases [RCV000448224]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADA2   AIFM3   ARVCF   ATP6V1E1   BCL2L13   BCR   BID   C22orf39   CCDC116   CCT8L2   CDC45   CECR2   CECR3   CLDN5   CLTCL1   COMT   CRKL   DGCR2   DGCR6   DGCR6L   DGCR8   ESS2   FAM230A   GAB4   GGT2   GGTLC2   GGTLC3   GNAZ   GNB1L   GP1BB   GSC2   HDHD5   HIC2   HIRA   IGLC1   IGLL5   IL17RA   KLHL22   LZTR1   MAPK1   MED15   MICAL3   MIR130B   MRPL40   P2RX6   PEX26   PI4KA   PPIL2   PPM1F   PPM1F-AS1   PRAME   PRODH   RAB36   RANBP1   RIMBP3   RIMBP3B   RIMBP3C   RSPH14   RTL10   RTN4R   SCARF2   SDF2L1   SEPTIN5   SERPIND1   SLC25A1   SLC25A18   SLC7A4   SNAP29   TANGO2   TBX1   THAP7   TMEM121B   TMEM191B   TMEM191C   TOP3B   TRMT2A   TSSK2   TUBA8   TXNRD2   UBE2L3   UFD1   USP18   USP41   VPREB1   XKR3   YDJC   YPEL1   ZDHHC8   ZNF280A   ZNF280B   ZNF74  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372216,888,899 - 23,723,805CLINVAR
Cytogenetic Map2222q11.1-11.23CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852934
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.